230 T H E B R I T I S H J O U R N A L O F S U R G E R Y

S H O R T NOTES OF RARE OR OBSCURE CASES

A CASE OF PEUTZ-JEGHERS SYNDROME BY R. KUMAR

SURGICAL REGISTRAR, ALDER HEY CHILDREN’S HOSPITAL, LIVERPOOL

Addisbnian origin on the l’lps and buccal mucosa was reported in twins by sir J. Hutchinson in 1896. one tion, probably due to an intestinal Polyp. The first

melanin spots on lips, digits, and buccal mucosa,

rectum. There was a history of similar attacks of colicky,

F. H., the girl’s mother, had suffered from similar attacks of colicky, abdominal pain since childhood.

Liverpool Hospital, and at laparotomy a small-bowel

of these twins died 21 years later from an intussuscep- pain, On and Off, since early

Proved case of multiple intestinal Polyps, with About 9 years ago she was operated upon in another

FIG. z6z.-Patient’s mother showing pigmented spots on the buccal mucosa. The similar patches on her lips have more or less completely faded away.

was published by Peutz in 1921. In 1949 Jeghers, McKusick, and Katz published 10 cases, stressing the significance of the association of intestinal polyps with pigmented spots on the lips and oral mucosa.

The main features of the syndrome are:- I. Melanin spots in the peri-oral area, lips,

buccal mucosa, palate, and sometimes on the digits. 2. Multiple intestinal polyps, involving mainly

the small intestine, though gastric, colonic, and rectal polyps are occasionally present. Even nasal and bladder polyps have been reported. (Jeghers and others, 1949.)

3. Hereditary transmission of the condition as a Mendelian dominant.

The following case depicts the various character- istics of the syndrome.

CASE REPORT L. H., a 12-year-old girl, was admitted to Alder Hey

Children’s Hospital on Dec. 21, 1960, with attacks of colicky, central abdominal pain of 2 weeks’ duration. The pain had become worse during the last 48 hours. Pain was accompanied by nausea and vomiting, and she had been

FIG. z63.-The patient showing pigmented spots in the peri- oral area, lips, and buccal mucosa.

intussusception due to polyps was found. The polyps were histologically benign. She also had pigmented spots on the lips and buccal mucosa similar to those on the patient (Fig. 262). No other members of the family had pigmented patches or ever suffered from abdominal disorder.

ON EXAMINATION the patient looked ill and rather pale. A striking feature was the presence of dark-brown pigmented spots on the peri-oral area, lips, buccal mucosa, and a few on the fingers (Fig. 263). There was slight central abdominal distension. Palpation revealed a tender mass in the umbilical region. Rectal examination was unremarkable. A straight radiograph of the abdomen showed a few distended coils of small bowel but no fluid levels.

A provisional diagnosis of intussusception due to an intestinal polyp was made and laparotomy was carried out on the night of admission.

AT OPERATION.-^ 3o-cm.-long ileo-ileal intussuscep- tion, with marked distension of proximal bowel, was found. The intussusception was irreducible and was resected, bowel continuity being restored by end-to-end anastomosis.

On opening the resected specimen, a polyp was found to be the cause of the intussusception. Examination of the gastro-intestinal tract revealed another solitary polyp in

23 I D E L A Y E D R U P T U R E O F T H E S P L E E N

the small intestine, about 40 cm. proximal to the intussusception. A tumour about 3 cm. in diameter was removed through an enterotomy (Fig. 264). The patient made an uneventful recovery from the operation.

FIG. 264.-Polyp removed through an enterotomy.

Histological examination showed that the polyps were benign. Post-operative barium-meal study of the gastro-intestinal tract did not show any other polyps.

DISCUSSION The time of appearance of the pigmented spots

in the reported cases has been from birth to early childhood. In our patient the pigmented patches were noticed when she was about 2 years old. The spots on her mother appeared at about the age of 4 years. The spots on the lips and face of the patient’s mother have gradually faded over the years, though the spots on the buccal mucosa have remained un- changed. A similar sequence of events was observed by Peutz, and lends support to the view that it is the mucosal pigmentation which is of primary diagnostic importance (Jeghers and others, 1949). Both our patient and her mother have dark-brown hair and brown eyes, and this corresponds with the prevalence

of this syndrome in people with a dark complexion and dark-brown hair and irides.

The abdominal symptoms start at an early age and are likely to recur after operation. This may be due to polyps missed at the original operation, or the growth of new ones. In our case, the patient’s mother has had recurrence of her abdominal pains since operation, which were severe enough to warrant admission into hospital on two occasions. On each occasion the pain settled on conservative management.

Whereas the polyps in polyposis of the colon have a high incidence of malignancy, the tendency to mdignant degeneration in small bowel polyps remains controversial. Richterich-van-Baerle, Byrnes, Morris, and Scheff (1956) give an incidence of 15 per cent in their review of the reported cases, but Dormandy (1957) considers malignant change in small bowel polyps to be extremely rare. He contends that the invasiveness of the tumour on histological examination is fallacious and is not borne out by the subsequent clinical progress of the patients.

SUMhmRY A case of Peutz-Jeghers Syndrome is presented

which depicts the various features of the disease. Stress is laid on the significance of the external manifestation of the syndrome which may lead to the diagnosis of the intestinal condition.

I am grateful to Mr. P. P. Rickham for permission to publish this case and for his advice and criticism.

REFERENCES DOWDY, T. L. (1957), New Engl. 3. Med., 256, 24,

FOSTER, D. B. E. (1944), Brit. med. J., 2, 78. HUTCHINSON, J. (1896), Arch. Surg. Lond., 7 , 290. JEGHERS, H., MCKUSICK, V. A., and KATZ, K. H. (1949),

OLDFIELD, J. (r960), Brit. 3. Surg., 47, 579. PEUTZ, J. L. A. (192r), Nederl. Maandschr. V.geneesk., 10,

RICHTERICH-VAN-BAERLE, R., BYRNES, W. W., MORRIS, M. G., and SCHEFF, S. (1956), Ann. intern. Med.,

SMITH, M. (1954), Brit.3. Surg., 41, 367. WEBER, F. PARKES (1919), Quart. 3. Med., 12, 404.

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A CASE OF LONG-DELAYED RUPTURE OF THE SPLEEN FOLLOWING TRAUMA BY ANN E. JOHNSON, LONDON

TRAUMATIC rupture of the normal spleen may present either as immediate hemorrhage or as delayed hzmorrhage. A short delay between the time of injury and the onset of circulatory collapse is the time required for decompensation, so that in the discussion of delayed rupture an arbitrary latent period is required. This was set at 48 hours by McIndoe, in 1932, since most people who collapse before this time have been bleeding slowly since injury. In the delayed type most patients recover rapidly from the initial injury and may return to normal activity although the majority are said to

have some symptoms. Sooner or later there is a recurrence or exacerbation of symptoms requiring a laparotomy. In most reported cases ‘delayed rupture’ occurs within 10 days of injury and it is rare after 3 weeks (Zabinski and Harkins, 1943). It is probable that most reports of ‘ spontaneous rupture of the normal spleen’ are in fact delayed rupture after ill-remembered trauma.

Two explanations are proposed for the ‘delay’. First, an intrasplenic hzmatoma may be formed with subcapsular hzmorrhage but without rupture, until the tension of the liquefying hematoma brings